A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277164



Internal ID22192373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:89948351..89951936hg38UCSC Ensembl
Outerchr6:90658070..90661655hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg388740
hg198740
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227951
Supporting Variants
SamplesHG00731
Known GenesBACH2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277164
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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